Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

COL2A1, FN1, PCYT1A, ACP5, CFAP410, TRPV4, PAM16, TRIP11, EFL1, GPX4, COL10A1, LBR, TONSL, MAPT, TARDBP, ABCB10P1, MMP13

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Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Epidemiology

The syndrome has been described in less than 30 patients so far.

Clinical description

Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.

Etiology

This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).

Genetic counseling

It is inherited in an autosomal dominant manner.